UNIVERSAL COMMUNITY CARRIER SCREENING FOR CYSTIC-FIBROSIS

被引：57
作者：
WILLIAMSON, R
机构：
[1] Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College, London
来源：
NATURE GENETICS | 1993年 / 3卷 / 03期
关键词：
D O I：
10.1038/ng0393-195
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Approximately 5% of the Caucasian North European and North American populations are carriers of the gene defect causing cystic fibrosis (CF). Since the CF gene was isolated in 1989 and the common mutations identified, there has been debate as to whether community-wide screening for CF carriers should be offered. Pilot studies and new discussions are leading to a consensus that screening is now possible and will not lead to undue anxiety, but there is still no agreement as to cost, or how it will be used by those screening positive.
引用
收藏
页码：195 / 201
页数：7
相关论文
共 42 条
[1]  
Berlin Yuri A., 1992, Human Mutation, V1, P260, DOI 10.1002/humu.1380010314
[2]  
BILLINGS PR, 1992, AM J HUM GENET, V50, P476
[3]   EFFECT OF INTRODUCING PRENATAL-DIAGNOSIS ON THE REPRODUCTIVE-BEHAVIOR OF FAMILIES AT RISK FOR CYSTIC-FIBROSIS - A COHORT STUDY [J].
BORGO, G ;
FABIANO, T ;
PEROBELLI, S ;
MASTELLA, G .
PRENATAL DIAGNOSIS, 1992, 12 (10) :821-830
[4]   2 STEPS CLOSER TO GENE-THERAPY FOR CYSTIC-FIBROSIS [J].
CUTTING, GR .
NATURE GENETICS, 1992, 2 (01) :4-5
[5]  
FARRALL M, 1986, LANCET, V2, P1402
[6]  
FELDMAN GL, 1988, LANCET, V2, P102
[7]   DETECTION OF OVER 98-PERCENT CYSTIC-FIBROSIS MUTATIONS IN A CELTIC POPULATION [J].
FEREC, C ;
AUDREZET, MP ;
MERCIER, B ;
GUILLERMIT, H ;
MOULLIER, P ;
QUERE, I ;
VERLINGUE, C .
NATURE GENETICS, 1992, 1 (03) :188-191
[8]  
GILLE C, 1991, HUM GENET, V86, P289
[9]   CYSTIC-FIBROSIS CARRIER SCREENING AT 1ST DIAGNOSIS OF PREGNANCY IN GENERAL-PRACTICE [J].
HARRIS, HJ ;
SCOTCHER, D ;
CRAUFURD, D ;
WALLACE, A ;
HARRIS, R .
LANCET, 1992, 339 (8808) :1539-1539
[10]   DNA TYPING FROM SINGLE HAIRS [J].
HIGUCHI, R ;
VONBEROLDINGEN, CH ;
SENSABAUGH, GF ;
ERLICH, HA .
NATURE, 1988, 332 (6164) :543-546
12345